Novel nonsense mutation (C-->A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy.
Melis
M A
MA
Istituto di Clinica E Biologia dell'Eta' Evolutuva, Università degli studi di Cagliari, Italy.
Muntoni
F
F
Cau
M
M
Loi
D
D
Puddu
A
A
Boccone
L
L
Mateddu
A
A
Cianchetti
C
C
Cao
A
A
D002675:Child, Preschool; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012694:Serine
D018388:Codon, Terminator; D018076:DNA, Complementary; D016189:Dystrophin; D012694:Serine